A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

Human Molecular Genetics

Volumn 21, Issue 2, 2012, Pages 358-370

  Weterman, Marian A J ^a   Sorrentino, Vincenzo ^a   Kasher, Paul R ^a   Jakobs, Marja E ^a   van Engelen, Baziel G M ^b   Fluiter, Kees ^a   de Wissel, Marit B ^a   Sizarov, Aleksander ^a   Nürnberg, Gudrun ^c,d   Nürnberg, Peter ^c,d   Zelcer, Noam ^a   Schelhaas, H Jurgen ^b   Baas, Frank ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c UNIVERSITY OF COLOGNE   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FATTY ACID TRANSPORTER 4; GARS PROTEIN; GJB1 PROTEIN; GOLGA2 PROTEIN; LRSAM1 PROTEIN; MITOFUSIN 2; MPZ PROTEIN; PROTEIN; TUMOR SUSCEPTIBILITY GENE 101 PROTEIN; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG; WDR34 PROTEIN;

ADULT; AGED; ARTICLE; AXONAL TYPE HEREDITARY MOTOR SENSORY NEUROPATHY; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 9Q; CLINICAL ARTICLE; CONTROLLED STUDY; DOMINANT INHERITANCE; EMBRYO; ENZYME ACTIVITY; EXON; FEMALE; FETUS; FRAMESHIFT MUTATION; GENE LOCUS; GENETIC ASSOCIATION; GENETIC VARIABILITY; HEREDITARY MOTOR SENSORY NEUROPATHY; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; MOTONEURON; MUSCLE WEAKNESS; NERVE FIBER DEGENERATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; RING FINGER MOTIF; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON; WILD TYPE; ZEBRA FISH;

CHROMOSOMES, HUMAN, PAIR 9; FEMALE; FRAMESHIFT MUTATION; GENES, DOMINANT; HUMANS; LOD SCORE; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; UBIQUITIN-PROTEIN LIGASES;

DANIO RERIO;

EID: 84855384758     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddr471     Document Type: Article

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